Pituitary Dwarfism Syndrome
Maryam + Yousef
What is pituitary dwarfism syndrome?
pituitary dwarfism syndrome occurs when the pituitary gland doesn't create enough growth hormone.
General
Disorder
History
history behind Disorder
When: 1963
Who: Pierre Maroteaux devoted himself to medical genetics and became director of research at the National Centre of Scientific Research. He discovered the disease was coming from genetics.
Where: France
where is pituitary dwarfism common
Where is this disease common?
- estaimated 14,000 in every 27,000 children born have a form of dwarfism
- in 2004, 20,000 children were getting supplemental GH therapy. 1/4 of them had a trace of dwarfism
- pituitary dwarfism isnt found in a particular ethincity
- found more in males than females
Signs & Symptoms
Signs
- adults under 4'10
- growth rate slower than expected for age
- delayed or non sexual deveopment during teen years
- arent as noticable in children until they get older
Pituiatry dwarf signs are not like regular dwarfs signs
Signs & Symptoms
Symptoms
- neurologic problems
- hydrocephalus (water in the brain)
- susceotiable to hearing loss, weight gain, ear infection, scoliosis, joint and back pain
To relief some of these symptoms seek medical care
Genetics Of Pityitary dwarfism Syndrome
Genetics of the Disease
Location of the gene
- scientists are not 100% sure on how pituitary dwarfism is caused
- they do believe though that it is due to abnormality in the 3rd and 7th chromosomes
Location Of Gene
Karyotype Comparision
Karyotype comparision
Inherited Or Spontaneous
Inheritated Or Spontaneous
- Pituitary dwarfism is inherited most of the time
- can also be spontaneous
Ex; similar to diabetes
- sometimes pituitary dwarfism can be inherited in abnormal ways too
Genetic mutations that can cause dwarfism
- nervous system tumor
- nervous system trauma
- leukemia
- genetics
Genetic mutations that cause dwarfism
Is It Dominant Or Recessive ?
Dominant Or Recessive Gene
- Pituitary dwarfism syndrome is autosomal x-linked recessive gene
- both parents must carry the gene
Punett square
Punnett Square
Medical diagnosis & Treatment
Medical Diagnosis & Treatment
How is the disorder diagnosed?
How is the disorder diagnosed?
- The first diagnosis would be made by observing physical characteristics.
- Close monitoring and doctors is necessary to record the constellation of symptoms for each unique case of dwarfism.
What type of tests can be done to identify the disease?
- MRI and CT scans are done to look for any spinal and other structural abnormalities before serious complications arise.
- Imaging techniques are used to determine the type of dwarfism.
What type of tests can be done to identify the disease?
What Is The Likely outcome for people with this disease?
Prognosis?
- Chromosomal abnormalities such as; pituitary gland disorders, problems with absorption, malnutrition, kidney disease, and extreme emotional distress.
- A child with dwarfism will have delayed gross motor development and skills such as; breathing ear infections, hearing loss, weight problems, curvature of the spine , bowed legs, stiff arms, joint and back pain, sleep apnea and the list goes on
Adult Life
Adult Height
- At a full grown adult they could reach to 42-52 inches
- Average life span would be 10 years less than a regular person
Medical Care
- Seeking medical care constantly is very important with dwarfism to not only relieve some of these symptoms but also so the doctor can keep an eye on any incoming problems
Possible Treatments
Possible treatments for those with the condition?
- Some forms of dwarfism can be treated through surgical or medical procedures
- Some of these procedures would be
- Bone lengthening procedures
- Reconstructive surgery
- Growth and sex hormone replacements
- All dwarfs have many different conditions and their own set of characteristics and complications. Luckily, many of these complications are treatable so that they can live healthy, active lives.
Cure For Dwarfism?
Is there currently a cure for people who have this disorder?
- Other than what is stated in the slide before, No there is not a full cure for dwarfism.
- There are ways to help treat it, but no full cure.
https://create.kahoot.it/create#/edit/5be53261-fc5a-42c9-be28-a312bfb10575/done
Kahoot time!!!